U.S. flag

An official website of the United States government

NM_005249.5(FOXG1):c.466AAG[1] (p.Lys157del) AND Rett syndrome, congenital variant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 4, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000530903.9

Allele description [Variation Report for NM_005249.5(FOXG1):c.466AAG[1] (p.Lys157del)]

NM_005249.5(FOXG1):c.466AAG[1] (p.Lys157del)

Gene:
FOXG1:forkhead box G1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_005249.5(FOXG1):c.466AAG[1] (p.Lys157del)
HGVS:
  • NC_000014.9:g.28767745AAG[1]
  • NG_009367.1:g.5665AAG[1]
  • NM_005249.5:c.466AAG[1]MANE SELECT
  • NP_005240.3:p.Lys157del
  • NC_000014.8:g.29236949_29236951del
  • NC_000014.8:g.29236951AAG[1]
  • NM_005249.4:c.469_471delAAG
Protein change:
K157del
Links:
dbSNP: rs1424025007
NCBI 1000 Genomes Browser:
rs1424025007
Molecular consequence:
  • NM_005249.5:c.466AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Rett syndrome, congenital variant
Identifiers:
MedGen: C3150705; Orphanet: 3095; OMIM: 613454

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000660421Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 4, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000660421.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FOXG1-related disease. This sequence change deletes 3 nucleotides from exon 1 of the FOXG1 mRNA (c.469_471delAAG). This leads to the deletion of 1 amino acid residuein the FOXG1 protein (p.Lys157del) but otherwise preserves the integrity of the reading frame.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025